ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: HOLOPROSENCEPHALY 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5 		AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. 19955556 2010
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5 		AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. 15590697 2005
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5 		AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. 11285244 2001
dbSNP: rs756225250
rs756225250
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C1864827
Disease:
HOLOPROSENCEPHALY 5 		AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712 1998